FREM1
Domain
The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding.
Function
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.
Involvement in disease
Bifid nose, with or without anorectal and renal anomalies
BNAR
A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
None
The disease is caused by variants affecting the gene represented in this entry.
Manitoba oculotrichoanal syndrome
MOTA
A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Trigonocephaly 2
TRIGNO2
A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FRAS1 family.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Basement membrane
- Localizes at the basement membrane zone of embryonic epidermis and hair follicles.
Alternative names
C9orf143, C9orf145, C9orf154, FREM1, FRAS1-related extracellular matrix protein 1, Protein QBRICK